Hypotonia-failure to thrive-microcephaly syndrome
INSERM
Abstract
Open-access reader
INSERM
Abstract
Open-access reader
Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.
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Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.
Key concepts: Failure to thrive, Hypotonia, Microcephaly, Psychomotor retardation, Medicine, Pediatrics, Psychomotor learning, Muscle Hypotonia